Potter Nicholas T, Spector Elaine B, Prior Thomas W
Molecular Subcommittee of the Laboratory Quality Assurance Committee, Huntington Disease Molecular Working Group, and Laboratory Quality Assurance Committee, Bethesda, Maryland, USA.
Genet Med. 2004 Jan-Feb;6(1):61-5. doi: 10.1097/01.gim.0000106165.74751.15.
One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Huntington Disease (HD) Working Group. These guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing HD testing, because the technologies discussed are available commercially and are widely utilized. We take the view that these technologies may change, and thus this document may change with future review.
美国医学遗传学与基因组学学会（ACMG）实验室质量保证（QA）委员会的一项任务是为临床遗传学实验室制定标准和指南，包括细胞遗传学、生化遗传学和分子遗传学专业领域。本文件由亨廷顿舞蹈病（HD）工作组在实验室QA委员会分子小组委员会的主持下制定。这些指南不应被理解为具有限制性或唯一的方法，而是提供一份有用的指导。当然，经过适当培训并具备资质的实验室主任有灵活性使用各种检测平台，并在很大程度上自由设计检测策略。我们认为，纳入目前在提供HD检测的实验室中常用的几种技术的特定技术指南至关重要，因为所讨论的技术可在市场上购得且被广泛使用。我们认为这些技术可能会发生变化，因此本文件可能会随着未来的审查而改变。
